• Coding variants in RPL3L and MYZAP increase risk of atrial fibrillation 

      Thorolfsdottir, Rosa B; Sveinbjornsson, Gardar; Sulem, Patrick; Nielsen, Jonas B.; Jonsson, Stefan; Halldorsson, Gisli H; Melsted, Pall; Ivarsdottir, Erna V; Davidsson, Olafur B; Kristjansson, Ragnar P; Thorleifsson, Gudmar; Helgadottir, Anna; Gretarsdottir, Solveig; Norddahl, Gudmundur; Rajamani, Sridharan; Torfason, Bjarni; Valgardsson, Atli S; Sverrisson, Jon T.; Tragante, Vinicius; Holmen, Oddgeir Lingaas; Asselbergs, Folkert W; Roden, Dan M; Darbar, Dawood; Pedersen, Terje Rolf; Sabatine, Marc S.; Willer, Cristen J.; Løchen, Maja-Lisa; Halldorsson, Bjarni V; Jonsdottir, Ingileif; Hveem, Kristian; Arnar, David O; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel F.; Holm, Hilma; Stefansson, Kari (Journal article; Peer reviewed, 2018)
      Most sequence variants identified hitherto in genome-wide association studies (GWAS) of atrial fibrillation are common, non-coding variants associated with risk through unknown mechanisms. We performed a meta-analysis of ...
    • COL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study 

      Jacobsen, Kaya Kvarme; Børte, Sigrid; Laborie, Lene Bjerke; Kristiansen, Hege; Schäfer, Annette; Gundersen, Trude; Zayats, Tetyana; Winsvold, Bendik Kristoffer Slagsvold; Karen, Rosendahl; Martinsen, Amy; Skogholt, Anne Heidi; Brumpton, Ben Michael; Willer, Cristen J; Fors, Egil Andreas; Kristoffersen, Espen Saxhaug; Heuch, Ingrid; Mundal, Ingunn Pernille; Zwart, John Anker Henrik; Nielsen, Jonas B.; Storheim, Kjersti; Hagen, Knut; Nilsen, Kristian Bernhard; Hveem, Kristian; Fritsche, Lars G; Thomas, Laurent Francois; Pedersen, Linda Margareth; Gabrielsen, Maiken Elvestad; Lie, Marie U.; Stensland, Synne; Zhou, Wei (Peer reviewed; Journal article, 2023)
      Objective: Developmental dysplasia of the hip (DDH) is a congenital condition affecting 2-3% of all infants. DDH increases the risk of osteoarthritis, is the cause of 30% of all total hip arthroplasties (THAs) in adults ...
    • Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes 

      Gusarova, Viktoria; O'Dushlaine, Colm; Teslovich, Tanya M.; Benotti, Peter N.; Mirshahi, Tooraj; Gottesman, Omri; van Hout, Cristopher V.; Murray, Michael F.; Mahajan, Anubha; Nielsen, Jonas B.; Fritsche, Lars; Wulff, Anders Berg; Gudbjartsson, Daníel Fannar; Sjögren, Marketa; Emdin, Connor A.; Scott, Robert A.; Lee, Wen-Jane; Small, Aeron; Kwee, Lydia C.; Dwivedi, Om Prakash; Prasad, Rashmi B.; Bruse, Shannon; Lopez, Alexander E.; Penn, John; Marcketta, Anthony; Leader, Joseph B.; Still, Christopher D.; Kirchner, H. Lester; Mirshahi, Uyenlinh L.; Wardeh, Amr H.; Hartle, Cassandra M.; Habegger, Lukas; Fetterolf, Samantha N.; Tusie-Luna, Teresa; Morris, Andrew P.; Holm, Hilma; Steinthorsdóttir, Valgerdur; Sulem, Patrick; Thorsteinsdóttir, Unnur; Rotter, Jerome I.; Chuang, Lee-Ming; Damrauer, Scott; Birtwell, David; Brummett, Chad M.; Khera, Amit V.; Natarajan, Pradeep; Orho-Melander, Marju; Flannick, Jason; Lotta, Luca A.; Willer, Cristen J.; Holmen, Oddgeir Lingaas; Ritchie, Marylyn D.; Ledbetter, David H.; Murphy, Andrew J.; Borecki, Ingrid B.; Reid, Jeffrey G.; Overton, John D.; Hansson, Ola; Groop, Leif; Shah, Svati H.; Kraus, William E.; Rader, Daniel J.; Chen, Yii-Der Ida; Hveem, Kristian; Wareham, Nicholas J.; Kathiresan, Sekar; Melander, Olle; Stefansson, Kari; Nordestgaard, Børge G.; Tybjærg-Hansen, Anne; Abecasis, Goncalo; Altshuler, David; Florez, Jose C.; Boehnke, Michael; McCarthy, Mark I.; Yancopoulos, George D.; Carey, David J.; Shuldiner, Alan R.; Baras, Aris; Dewey, Frederick E.; Gromada, Jesper (Journal article; Peer reviewed, 2018)
      Angiopoietin-like 4 (ANGPTL4) is an endogenous inhibitor of lipoprotein lipase that modulates lipid levels, coronary atherosclerosis risk, and nutrient partitioning. We hypothesize that loss of ANGPTL4 function might improve ...
    • Genome-wide analysis yields new loci associating with aortic valve stenosis 

      Helgadottir, Anna; Thorleifsson, Gudmar; Gretarsdottir, Solveig; Stefansson, Olafur A.; Tragante, Vinicius; Thorolfsdottir, Rosa B.; Jonsdottir, Ingileif; Bjornsson, Thorsteinn; Steinthorsdottir, Valgerdur; Verweij, Niek; Nielsen, Jonas B.; Zhou, Wei; Folkersen, Lasse; Martinsson, Andreas; Heydarpour, Mahyar; Prakash, Siddharth; Oskarsson, Gylfi; Gudbjartsson, Tomas; Geirsson, Arnar; Olafsson, Isleifur; Sigurdsson, Emil L.; Almgren, Peter; Melander, Olle; Franco-Cereceda, Anders; Hamsten, Anders; Fritsche, Lars; Lin, Maoxuan; Yang, Bo; Hornsby, Whitney; Guo, Dongchuan; Brummett, Chad M.; Abecasis, Goncalo; Mathis, Michael; Milewicz, Dianna; Body, Simon C.; Eriksson, Per; Willer, Cristen J.; Hveem, Kristian; Newton-Cheh, Christopher; Smith, J. Gustav; Danielsen, Ragnar; Thorgeirsson, Gudmundur; Thorsteinsdottir, Unnur; Gudbjartsson, Daniel F.; Holm, Hilma; Stefansson, Kari (Journal article; Peer reviewed, 2018)
      Aortic valve stenosis (AS) is the most common valvular heart disease, and valve replacement is the only definitive treatment. Here we report a large genome-wide association (GWA) study of 2,457 Icelandic AS cases and 349,342 ...
    • Genome-wide association analysis of self-reported daytime sleepiness identifies 42 loci that suggest biological subtypes 

      Wang, Heming; Lane, Jacqueline M.; Jones, Samuel E.; Dashti, Hassan S.; Ollila, Hanna M.; Wood, Andrew R.; van Hees, Vincent T.; Brumpton, Ben Michael; Winsvold, Bendik K S; Kantojärvi, Katri; Palviainen, Teemu; Cade, Brian E.; Sofer, Tamar; Song, Yanwei; Patel, Krunal; Anderson, Simon G.; Bechtold, David A.; Bowden, Jack; Emsley, Richard; Kyle, Simon D.; Little, Max A.; Loudon, Andrew S.; Scheer, Frank A.J.L.; Purcell, Shaun M.; Richmond, Rebecca C.; Spiegelhalder, Kai; Tyrrell, Jessica; Zhu, Xiaofeng; Hublin, Christer; Kaprio, Jaakko A.; Kristiansson, Kati; Sulkava, Sonja; Paunio, Tiina; Hveem, Kristian; Nielsen, Jonas B.; Willer, Cristen J.; Zwart, John-Anker; Strand, Linn B; Frayling, Timothy M.; Ray, David; Lawlor, Deborah A.; Rutter, Martin K.; Weedon, Michael N.; Redline, Susan; Saxena, Richa (Journal article; Peer reviewed, 2019)
      Excessive daytime sleepiness (EDS) affects 10–20% of the population and is associated with substantial functional deficits. Here, we identify 42 loci for self-reported daytime sleepiness in GWAS of 452,071 individuals from ...
    • MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk 

      Surakka, Ida; Fritsche, Lars; Zhou, Wei; Backman, Joshua; Kosmicki, Jack A.; Lu, Haocheng; Brumpton, Ben Michael; Nielsen, Jonas B.; Gabrielsen, Maiken Elvestad; Skogholt, Anne Heidi; Wolford, Brooke N.; Graham, Sarah E.; Chen, Y. Eugene; Lee, Seunggeun; Kang, Hyun Min; Langhammer, Arnulf; Forsmo, Siri; Åsvold, Bjørn Olav; Styrkarsdottir, Unnur; Holm, Hilma; Gudbjartsson, Daniel F.; Stefansson, Kari; Baras, Aris; Bai, Xiaodong; Balasubramanian, Suganthi; Barnard, Leland; Blumenfeld, Andrew; Cantor, Michael; Coppola, Giovanni; Economides, Aris; Eom, Gisu; Habegger, Lukas; Hahn, Young; Hawes, Alicia; Jones, Marcus B.; Khalid, Shareef; Lotta, Luca A.; Maxwell, Evan K.; Mitnaul, Lyndon J.; Overton, John D.; Reid, Jeffrey G.; Ferreira, Manuel Allen Revez; Salerno, William; Sharma, Deepika; Shuldiner, Alan R.; Staples, Jeffrey C.; Yadav, Ashish; Abecasis, Goncalo R.; Hveem, Kristian; Willer, Cristen J. (Peer reviewed; Journal article, 2020)
      A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the ...
    • Mitochondrial genome-wide association study of migraine – the HUNT Study 

      Børte, Sigrid; Zwart, John-Anker; Skogholt, Anne Heidi; Gabrielsen, Maiken Elvestad; Thomas, Laurent; Fritsche, Lars G; Surakke, Ida; Nielsen, Jonas B.; Zhou, Wei; Wolford, Brooke; Vigeland, Magnus Dehli; Hagen, Knut; Kristoffersen, Espen Saxhaug; Nyholt, Dale R; Chasman, Daniel I; Brumpton, Ben Michael; Willer, Christen; Winsvold, Bendik K S (Peer reviewed; Journal article, 2020)
      Background Variation in mitochondrial DNA (mtDNA) has been indicated in migraine pathogenesis, but genetic studies to date have focused on candidate variants, with sparse findings. We aimed to perform the first mitochondrial ...
    • Model-based assessment of replicability for genome-wide association meta-analysis 

      McGuire, Daniel; Jiang, Yu; Liu, Mengzhen; Weissenkampen, J. Dylan; Eckert, Scott; Yang, Lina; Chen, Fang; Liu, MengZhen; Wedow, Robbee; Li, Yue; Brazel, David M.; Datta, Gargi; Davila-Velderrain, Jose; Tian, Chao; Zhan, Xiaowei; Choquet, H. éléne; Docherty, Anna R.; Faul, Jessica D.; Foerster, Johanna R.; Fritsche, Lars; Gabrielsen, Maiken Elvestad; Gordon, Scott D.; Haessler, Jeffrey; Hottenga, Jouke-Jan; Huang, Hongyan; Jang, Seon-Kyeong; Jansen, Philip R.; Ling, Yueh; Ma ̈gi, Reedik; Matoba, Nana; McMahon, George; Mulas, Antonella; Orru, Valeria; Palviainen, Teemu; Pandit, Anita; Reginsson, Gunnar W.; Skogholt, Anne Heidi; Smith, Jennifer A.; Taylor, Amy E.; Turman, Constance; Willemsen, Gonneke; Young, Hannah; Young, Kendra A.; Zajac, Gregory J. M.; Zhao, Wei; Zhou, Wei; Bjornsdottir, Gyda; Boardman, Jason D.; Boehnke, Michael; Boomsma, Dorret I.; Chen, Chu; Cucca, Francesco; Davies, Gareth E.; Eaton, Charles B.; Ehringer, Marissa A.; Esko, Tõnu; Fiorillo, Edoardo; Gillespie, Nathan A.; Gudbjartsson, Daniel F.; Haller, Toomas; Harris, Kathleen Mullan; Heath, Andrew C.; Hewitt, John K.; Hickie, Ian B.; Hokanson, John E.; Hopfer, Christian J.; Hunter, David J.; Iacono, William G.; Johnson, Eric O.; Kamatani, Yoichiro; Kardia, Sharon L. R.; Keller, Matthew C.; Kellis, Manolis; Kooperberg, Charles; Kraft, Peter; Krauter, Kenneth S.; Laakso, Markku; Lind, Penelope A.; Loukola, Anu; Lutz, Sharon M.; Madden, Pamela A. F.; Martin, Nicholas G.; McGue, Matt; McQueen, Matthew B.; Medland, Sarah E.; Metspalu, Andres; Mohlke, Karen L.; Nielsen, Jonas B.; Okada, Yukinori; Peters, Ulrike; Polderman, Tinca J. C.; Posthuma, Danielle; Reiner, Alexander P.; Rice, JP; Rimm, Eric; Rose, Richard J.; Runarsdottir, Valgerdur; Stallings, Michael C.; Stanˇca ́kova, Alena; Stefansson, Hreinn; Thai, Khanh K.; Tindle, Hilary A.; Tyrfingsson, Thorarinn; Wall, Tamara L.; Weir, David R.; Weisner, Constance M; Whitfield, John B.; Winsvold, Bendik K S; Yin, Jie; Zuccolo, Luisa; Bierut, Laura J.; Hveem, Kristian; Lee, James J.; Munafo, Marcus R.; Saccone, Nancy L.; Willer, Cristen J; Cornelis, Marilyn C.; David, Sean P.; Hinds, David; Jorgenson, Eric; Kaprio, Jaakko; Stitzel, Jerry A.; Stefansson, Kari; Thorgeirsson, Thorgeir E.; Abecasis, Goncalo; Liu, Dajiang J.; Vrieze, Scott; Berg, Arthur; Jiang, Bibo; Li, Qunhua (Peer reviewed; Journal article, 2021)
      Genome-wide association meta-analysis (GWAMA) is an effective approach to enlarge sample sizes and empower the discovery of novel associations between genotype and phenotype. Independent replication has been used as a ...
    • Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis 

      Graham, Sarah E.; Nielsen, Jonas B.; Zawistowski, Matthew; Zhou, Wei; Fritsche, Lars G.; Gabrielsen, Maiken Elvestad; Skogholt, Anne Heidi; Surakka, Ida; Hornsby, Whitney E.; Fermin, Damian; Larach, Daniel B.; Kheterpal, Sachin; Brummett, Chad M.; Lee, Seunggeun; Kang, Hyun Min; Abecasis, Goncalo; Romundstad, Solfrid; Hallan, Stein; Sampson, Matthew G.; Hveem, Kristian; Willer, Cristen J. (Journal article; Peer reviewed, 2019)
      Chronic kidney disease (CKD) is a growing health burden currently affecting 10–15% of adults worldwide. Estimated glomerular filtration rate (eGFR) as a marker of kidney function is commonly used to diagnose CKD. We analyze ...
    • Type 2 diabetes sex-specific effects associated with E167K coding variant in TM6SF2 

      Fan, Yanbo; Wolford, Brooke N.; Lu, Haocheng; Liang, Wenying; Sun, Jinjian; Zhou, Wei; Rom, Oren; Mahajan, Anubha; Surakka, Ida; Graham, Sarah E.; Liu, Zhipeng; Kim, Hyunbae; Ramdas, Shweta; Fritsche, Lars; Nielsen, Jonas B.; Gabrielsen, Maiken Elvestad; Hveem, Kristian; Yang, Dongshan; Song, Jun; Garcia-Barrio, Minerva T.; Zhang, Jifeng; Liu, Wanqing; Zhang, Kezhong; Willer, Cristen J.; Chen, Y. Eugene (Peer reviewed; Journal article, 2021)
      The rs58542926C >T (E167K) variant of the transmembrane 6 superfamily member 2 gene (TM6SF2) is associated with increased risks for nonalcoholic fatty liver disease (NAFLD) and type 2 diabetes (T2D). Nevertheless, the role ...